Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755628017 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755629013 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755630015 | A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Diabetes mellitus associated with genetic syndrome | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | déficience intellectuelle légère (trouble) | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Due to | Genetic disease | false | Inferred relationship | Some | 3 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | localisation d'une constatation (attribut) | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Secondary diabetes mellitus | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR